Bouilly, Justine

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. [electronic resource] - Human mutation Oct 2011 - 1108-13 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.21543 doi


Alleles
Amino Acid Sequence
Base Sequence
Cohort Studies
Female
Gene Frequency
Gene Order
HEK293 Cells
Heterozygote
Homeodomain Proteins--genetics
Humans
Models, Molecular
Molecular Sequence Data
Mutation
Prevalence
Primary Ovarian Insufficiency--epidemiology
Protein Conformation
Sequence Alignment
Transcription Factors--genetics